Canonical Allele Identifier: PA2825179011
Gene: LDLR HGNC NCBI

Linked Data

ClinVar Variation Id: 3070315
ClinVar RCV Id: RCV004011833
JSON-LD

Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_000518.1:p.Gln378His
CA404083642
NM_000527.5:c.1134G>C
CA404083643
NM_000527.5:c.1134G>T